Canonical Allele Identifier: CA379920881

Gene: ANO5

Linked Data

• gnomAD v4: 11-22250350-C-T
• MyVariant Identifiers: chr11:g.22271896C>T (hg19) ; chr11:g.22250350C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250350C>T , CM000673.2:g.22250350C>T	GRCh38
NC_000011.9:g.22271896C>T , CM000673.1:g.22271896C>T	GRCh37
NC_000011.8:g.22228472C>T	NCBI36
NG_015844.1:g.62175C>T , LRG_868:g.62175C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682089.1:n.312C>T
ENST00000682266.1:c.542C>T	ENSP00000507766.1:p.Ser181Leu
ENST00000682341.1:c.950C>T	ENSP00000508251.1:p.Ser317Leu
ENST00000682530.1:c.*924C>T	ENSP00000506805.1:n.*924C>T
ENST00000683197.1:c.950C>T	ENSP00000507641.1:p.Ser317Leu
ENST00000683411.1:c.542C>T	ENSP00000508397.1:p.Ser181Leu
ENST00000683437.1:c.542C>T	ENSP00000508408.1:p.Ser181Leu
ENST00000683613.1:n.1986C>T
ENST00000683834.1:n.1192C>T
ENST00000684663.1:c.947C>T	ENSP00000508009.1:p.Ser316Leu
ENST00000324559.9:c.992C>T MANE Select	ENSP00000315371.9:p.Ser331Leu
ENST00000648804.1:n.1327C>T
ENST00000324559.8:c.992C>T	ENSP00000315371.8:p.Ser331Leu
NM_001142649.1:c.989C>T	NP_001136121.1:p.Ser330Leu
NM_213599.2:c.992C>T , LRG_868t1:c.992C>T	NP_998764.1:p.Ser331Leu
XM_005252820.2:c.950C>T	XP_005252877.2:p.Ser317Leu
XM_005252821.2:c.947C>T	XP_005252878.2:p.Ser316Leu
XM_005252822.3:c.914C>T	XP_005252879.1:p.Ser305Leu
XM_005252823.3:c.911C>T	XP_005252880.1:p.Ser304Leu
XM_011519949.1:c.899C>T	XP_011518251.1:p.Ser300Leu
XM_005252820.3:c.950C>T	XP_005252877.2:p.Ser317Leu
XM_005252821.3:c.947C>T	XP_005252878.2:p.Ser316Leu
XM_005252822.4:c.914C>T	XP_005252879.1:p.Ser305Leu
XM_011519949.2:c.899C>T	XP_011518251.1:p.Ser300Leu
NM_001142649.2:c.989C>T	NP_001136121.1:p.Ser330Leu
NM_213599.3:c.992C>T MANE Select	NP_998764.1:p.Ser331Leu